Variant Gene N. diseases v DSI v DPI v Chr Position Consequence Alleles Class AF EXOME AF GENOME Score vda EI vda N. PMIDs First Ref. Last Ref.
dbSNP: rs137852912
rs137852912
10 0.776 0.120 1 55057454 missense variant G/A;C;T snv 7.2E-05 0.020 1.000 2 2006 2018
dbSNP: rs28942111
rs28942111
7 0.807 0.120 1 55044016 missense variant T/A snv 0.010 1.000 1 2018 2018
dbSNP: rs28942112
rs28942112
3 0.925 0.040 1 55052400 missense variant T/C snv 0.010 1.000 1 2018 2018
dbSNP: rs374603772
rs374603772
9 0.776 0.160 1 55058630 missense variant C/T snv 4.4E-05 2.8E-05 0.010 1.000 1 2018 2018